New Regions of the Human Genome Linked to Skin Color Variation in Some African Populations

In the first study of its kind, an international team of genomics researchers has identified new regions of the human genome that are associated with skin color variation in some African populations, opening new avenues for research on skin diseases and cancer in all populations. These findings may help researchers determine if humans with certain DNA sequences are more or less susceptible to DNA damage caused by ultraviolet radiation (UVR) or respond to cellular stress differently. National Institutes of Health researchers, including several from DCEG, contributed to this effort, led by Sarah Tishkoff, Ph.D., at the University of Pennsylvania in Philadelphia. The findings were published October 12, 2017, in the journal Science.

Studying human skin pigmentation helps researchers understand how the cells that produce skin pigment—melanocytes—and genes work together to protect skin from the damaging effects of UVR. Because equatorial regions receive approximately two times more UVR than more temperate regions, darker pigmentation in people from these regions is thought to reduce skin damage and cancer. In contrast, lighter pigmentation of people in northern countries may increase the production of vitamin D3 needed to prevent rickets, a softening and weakening of bones in children, usually due to inadequate vitamin D.